A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of vitamin K dependent blood coagulation factors

被引：0
|
作者：
SanchezVega, B
Brenner, B
Wu, SM
Lanir, N
Montejo, JM
Stafford, DW
Solera, J
机构：
[1] HOSP LA PAZ, U MOL GENET, MADRID, SPAIN
[2] RAMBAM MED CTR, U THROMB & HEMOSTAS, HAIFA, ISRAEL
[3] UNIV N CAROLINA, DEPT BIOL, CHAPEL HILL, NC USA
来源：
THROMBOSIS AND HAEMOSTASIS | 1997年
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：O1612 / O1612
页数：1
相关论文
共 50 条
  • [1] A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of vitamin K dependent blood coagulation factors.
    Brenner, B
    SanchezVega, B
    Wu, SM
    Lanir, N
    Montejo, JM
    Stafford, DW
    Solera, J
    BLOOD, 1997, 90 (10) : 1284 - 1284
  • [2] A missense mutation in γ-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors
    Brenner, B
    Sánchez-Vega, B
    Wu, SM
    Lanir, N
    Stafford, DV
    Solera, J
    BLOOD, 1998, 92 (12) : 4554 - 4559
  • [3] CONGENITAL COMBINED DEFICIENCY OF THE VITAMIN K-DEPENDENT CLOTTING FACTORS (VKCFD): A NOVEL HOMOZYGOUS MISSENSE GAMMA-GLUTAMYL CARBOXYLASE (GGCX) MUTATION
    Al Absi, Hebah
    Abdullah, Mohammad
    PEDIATRIC BLOOD & CANCER, 2018, 65
  • [4] First case of compound heterozygosity in the gamma-glutamyl carboxylase gene causing combined deficiency of all vitamin K-dependent blood coagulation factors
    Rost, S
    Fregin, A
    Koch, D
    Compes, M
    Wolz, W
    Müller, CR
    Oldenburg, J
    33RD HEMOPHILIA SYMPOSIUM: HAMBURG 2002, 2004, : 287 - 290
  • [5] Novel mutation in the γ-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors
    Spronk, HMH
    Farah, RA
    Buchanan, GR
    Vermeer, C
    Soute, BAM
    BLOOD, 2000, 96 (10) : 3650 - 3652
  • [6] Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD): A Novel Gamma-glutamyl Carboxylase (GGCX) Mutation
    Al Absi, Hebah S.
    Abdullah, Mohammad F.
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2019, 41 (04) : E224 - E226
  • [7] Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency
    Darghouth, Dhouha
    Hallgren, Kevin W.
    Shtofman, Rebecca L.
    Mrad, Amel
    Gharbi, Youssef
    Maherzi, Ahmed
    Kastally, Radhia
    LeRicousse, Sophie
    Berkner, Kathleen L.
    Rosa, Jean-Philippe
    BLOOD, 2006, 108 (06) : 1925 - 1931
  • [8] Compound heterozygous mutations in the γ-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors
    Rost, S
    Fregin, A
    Koch, D
    Compes, M
    Müller, CR
    Oldenburg, J
    BRITISH JOURNAL OF HAEMATOLOGY, 2004, 126 (04) : 546 - 549
  • [9] Novel phenotype and γ-glutamyl carboxylase mutations in combined deficiency of vitamin K-dependent coagulation factors
    Lunghi, B.
    Redaelli, R.
    Caimi, T. M.
    Corno, A. R.
    Bernardi, F.
    Marchetti, G.
    HAEMOPHILIA, 2011, 17 (05) : 822 - 824
  • [10] Novel Splice Site Mutations in the Gamma Glutamyl Carboxylase Gene in a Child With Congenital Combined Deficiency of the Vitamin K-Dependent Coagulation Factors (VKCFD)
    Titapiwatanakun, Ruetima
    Rodriguez, Vilmarie
    Middha, Sumit
    Dukek, Brian A.
    Pruthi, Rajiv K.
    PEDIATRIC BLOOD & CANCER, 2009, 53 (01) : 92 - 95
12345